Canonical Allele Identifier: CA331405
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90814
ClinVar RCV Id: RCV000076316
dbSNP Id: rs587779114

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475162dup , CM000664.2:g.47475162dup GRCh38
NC_000002.11:g.47702301dup , CM000664.1:g.47702301dup GRCh37
NC_000002.10:g.47555805dup NCBI36
NG_007110.2:g.77039dup , LRG_218:g.77039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1897dup ENSP00000495641.2:p.Ile633AsnfsTer11
ENST00000233146.7:c.1897dup MANE Select ENSP00000233146.2:p.Ile633AsnfsTer11
ENST00000543555.6:c.1699dup ENSP00000442697.1:p.Ile567AsnfsTer11
ENST00000644092.1:c.*197dup ENSP00000496351.1:n.*197dup
ENST00000645339.1:c.1897dup ENSP00000496441.1:p.Ile633AsnfsTer11
ENST00000645506.1:c.1897dup ENSP00000495455.1:p.Ile633AsnfsTer11
ENST00000646415.1:c.1897dup ENSP00000495543.1:p.Ile633AsnfsTer11
ENST00000233146.6:c.1897dup ENSP00000233146.2:p.Ile633AsnfsTer11
ENST00000406134.5:c.1897dup ENSP00000384199.1:p.Ile633AsnfsTer11
ENST00000543555.5:c.1699dup ENSP00000442697.1:p.Ile567AsnfsTer11
ENST00000610696.4:c.*293dup ENSP00000483159.1:n.*293dup
ENST00000613514.4:c.*437dup ENSP00000484137.1:n.*437dup
ENST00000617333.3:c.*663dup ENSP00000482468.1:n.*663dup
ENST00000617938.4:c.*869dup ENSP00000481158.1:n.*869dup
ENST00000621359.2:c.1897dup ENSP00000481416.1:p.Ile633AsnfsTer11
NM_000251.2:c.1897dup , LRG_218t1:c.1897dup NP_000242.1:p.Ile633AsnfsTer11
NM_001258281.1:c.1699dup NP_001245210.1:p.Ile567AsnfsTer11
XM_005264332.2:c.1897dup XP_005264389.2:p.Ile633AsnfsTer11
XM_011532867.1:c.1897dup XP_011531169.1:p.Ile633AsnfsTer11
XR_939685.1:n.1969dup
XM_005264332.4:c.1897dup XP_005264389.2:p.Ile633AsnfsTer11
XM_011532867.2:c.1897dup XP_011531169.1:p.Ile633AsnfsTer11
XR_001738747.2:n.1959dup
XR_939685.2:n.1959dup
NM_000251.3:c.1897dup MANE Select NP_000242.1:p.Ile633AsnfsTer11